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Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… modeling studies demonstrated that neuronal-targeted expression of NPC1 rescued neurodegenerative disease, … Dr. Pavan’s group has collaborated to identify expression quantitative trait loci (eQTL) in a large cohort of primary melanocytes, …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… and excretion (ADME) of pharmaceutical drugs. Gene expression RT-PCR for genes of interest using Applied … chemistry on BIO-RAD instruments (MyiQ). Whole genome gene expression array, such as the GeneChip® Human genome U133 … regression model to evaluate the association between the trait and variants in that region. The program executable and …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… part in several worldwide GWAS consortia studying T2D and quantitative traits. To date, these consortia have identified … DNA methylation (by bisulfite sequencing), gene expression (by RNA-seq), and phenotypes on more than 300 … M, Saulino A, Letcher R, Wigler M, Collins FS. The NF1 locus encodes a protein functionally related to mammalian GAP …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… changes in cis and trans and the evolution of gene expression in humans and chimpanzees Barr et al. Genome Biol … transcription factors — proteins that regulate the expression of genes — that function differently between the …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… This led to the discovery of the first cancer associated locus found through population-based analyses in the dog. She … architecture, canine breed structure, simple and complex trait mapping and genomic analysis of canine tumors. The … JA, Davis BW, Knapp DW, and Ostrander EA. RNAseq expression patterns of canine invasive urothelial carcinoma …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… G, Ramos E, Adeyemo A, Shriner D. et al. UGT1A1 is a major locus influencing bilirubin levels in African Americans. Eur … G. Dunston, F. Collins, C. Rotimi. A Genome Wide Scan for quantitative trait loci linked to obesity phenotypes among West Africans. …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… scale changes such as duplications or deletions. Gene expression tests analyze mRNA and can identify over- or under-expression of certain genes, which affects what proteins are …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… H, Charles BA, Christman MF, Rotimi CN. UGT1A1 is a major locus influencing bilirubin levels in African Americans. Eur … Y, Oli J, Johnson T. Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… in humans often fail due to sample size limitations and locus heterogeneity; factors the Ostrander lab argues can … metastatic lethal variants and included gene expression studies 46, 47 , 48 , 49 , 50 , 51 . … We have, … Carvunis AR, Bannasch DL, Ostrander EA, Ideker T. (2020) Quantitative translation of dog-to-human aging by conserved …